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Background: While the importance of gene-gene interactions in human diseases has been well recognized, identifying them has been a great challenge, especially through association studies with millions of genetic markers and thousands of…

Quantitative Methods · Quantitative Biology 2015-05-07 Changshuai Wei , Qing Lu

This paper presents a simulation study comparing the performance of generalized joint regression models (GJRM) with generalized linear mixed models (GLMM) and generalized estimating equations (GEE) for regression of longitudinal data with…

Methodology · Statistics 2025-11-07 Aydin Sareff-Hibbert , Gillian Z. Heller

Complex diseases are multifactorial traits caused by both genetic and environmental factors. They represent the most part of human diseases and include those with largest prevalence and mortality (cancer, heart disease, obesity, etc.).…

Quantitative Methods · Quantitative Biology 2009-05-08 Roberto Amato , Michele Pinelli , Daniel D'Andrea , Gennaro Miele , Mario Nicodemi , Giancarlo Raiconi , Sergio Cocozza

We consider testing multivariate conditional independence between a response Y and a covariate vector X given additional variables Z. We introduce the Multivariate Sufficient Statistic Conditional Randomization Test (MS-CRT), which…

Methodology · Statistics 2025-04-10 Xiaotong Lin , Jie Xie , Fangqiao Tian , Dongming Huang

Motivation: Gene set testing is typically performed in a supervised context to quantify the association between groups of genes and a clinical phenotype. In many cases, however, a gene set-based interpretation of genomic data is desired in…

Quantitative Methods · Quantitative Biology 2015-03-17 H. Robert Frost , Zhigang Li , Jason H. Moore

Due to rapid technological advances, a wide range of different measurements can be obtained from a given biological sample including single nucleotide polymorphisms, copy number variation, gene expression levels, DNA methylation and…

Methodology · Statistics 2013-03-29 Christopher Minas , Edward Curry , Giovanni Montana

In this paper we develop a general framework for quantifying how binary risk factors jointly influence a binary outcome. Our key result is an additive expansion of odds ratios as a sum of marginal effects and interaction terms of varying…

Estimating global pairwise interaction effects, i.e., the difference between the joint effect and the sum of marginal effects of two input features, with uncertainty properly quantified, is centrally important in science applications. We…

Machine Learning · Computer Science 2020-07-14 Tianyu Cui , Pekka Marttinen , Samuel Kaski

With the advance of high-throughput sequencing technologies, it has become feasible to investigate the influence of the entire spectrum of sequencing variations on complex human diseases. Although association studies utilizing the new…

Methodology · Statistics 2025-08-19 Ming Li , Zihuai He , Min Zhang , Xiaowei Zhan , Changshuai Wei , Robert C Elston , Qing Lu

We consider the estimation of regression models on strata defined using a categorical covariate, in order to identify interactions between this categorical covariate and the other predictors. A basic approach requires the choice of a…

Statistics Theory · Mathematics 2016-11-09 Edouard Ollier , Vivian Viallon

High-throughput pheno-, geno-, and envirotyping allows characterization of plant genotypes and the trials they are evaluated in, producing different types of data. These different data modalities can be integrated into statistical or…

To capture the dependences of a disease on several risk factors, a challenge is to combine model-based estimation with evidence-based arguments. Standard case-control methods allow estimation of the dependences of a rare disease on several…

Methodology · Statistics 2012-03-09 Nanny Wermuth , Giovanni M. Marchetti

In many real-world scenarios, interested variables are often represented as discretized values due to measurement limitations. Applying Conditional Independence (CI) tests directly to such discretized data, however, can lead to incorrect…

Artificial Intelligence · Computer Science 2025-06-11 Boyang Sun , Yu Yao , Xinshuai Dong , Zongfang Liu , Tongliang Liu , Yumou Qiu , Kun Zhang

In clinical trials involving paired organs such as eyes, ears, and kidneys, binary outcomes may be collected bilaterally or unilaterally. In such combined datasets, bilateral outcomes exhibit intra-subject correlation, while unilateral…

Methodology · Statistics 2025-08-19 Jia Zhou , Chang-Xing Ma

Negative controls are increasingly used to evaluate the presence of potential unmeasured confounding in observational studies. Beyond the use of negative controls to detect the presence of residual confounding, proximal causal inference…

Methodology · Statistics 2024-06-06 Jiewen Liu , Chan Park , Kendrick Li , Eric J. Tchetgen Tchetgen

Increasing evidence has shown that gene-gene interactions have important effects on biological processes of human diseases. Due to the high dimensionality of genetic measurements, existing interaction analysis methods usually suffer from a…

Methodology · Statistics 2021-01-11 Xing Qin , Shuangge Ma , Mengyun Wu

We propose a random-effects approach to missing values for generalized linear mixed model (GLMM) analysis. The method converts a GLMM with missing covariates to another GLMM without missing covariates. The standard GLMM analysis tools for…

Methodology · Statistics 2026-01-01 Thuan Nguyen , Jiangshan Zhang , Jiming Jiang

When estimating a Global Average Treatment Effect (GATE) under network interference, units can have widely different relationships to the treatment depending on a combination of the structure of their network neighborhood, the structure of…

Methodology · Statistics 2023-02-13 Kevin Han , Johan Ugander

Recently, the binary expansion testing framework was introduced to test the independence of two continuous random variables by utilizing symmetry statistics that are complete sufficient statistics for dependence. We develop a new test based…

Statistics Theory · Mathematics 2021-01-11 Duyeol Lee , Kai Zhang , Michael R. Kosorok

The method of generalized estimating equations (GEE) is popular in the biostatistics literature for analyzing longitudinal binary and count data. It assumes a generalized linear model (GLM) for the outcome variable, and a working…

Methodology · Statistics 2016-06-03 Aristidis K. Nikoloulopoulos
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